Incidental Mutation 'IGL02271:Cytip'
ID287129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cytip
Ensembl Gene ENSMUSG00000026832
Gene Namecytohesin 1 interacting protein
SynonymsA130053M09Rik, Pscdbp, Cybr, Cbp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02271
Quality Score
Status
Chromosome2
Chromosomal Location58129137-58195532 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 58133860 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 316 (L316*)
Ref Sequence ENSEMBL: ENSMUSP00000028175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028175]
Predicted Effect probably null
Transcript: ENSMUST00000028175
AA Change: L316*
SMART Domains Protein: ENSMUSP00000028175
Gene: ENSMUSG00000026832
AA Change: L316*

DomainStartEndE-ValueType
PDZ 86 166 6.88e-13 SMART
low complexity region 177 188 N/A INTRINSIC
low complexity region 240 253 N/A INTRINSIC
low complexity region 295 306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148764
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a null allele display impaired trafficking and/or cell adhesion of immune system cells. Mice homozygous for a reporter allele show normal immune cell development and function; however, mutant hematopoietic stems cells have impaired repopulating activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,510,950 probably benign Het
Bms1 C A 6: 118,389,329 V1068F probably benign Het
Cand1 A T 10: 119,211,721 N621K probably damaging Het
Cd44 C T 2: 102,831,387 E418K possibly damaging Het
Clip2 A T 5: 134,502,571 N758K probably benign Het
Cst11 A T 2: 148,771,241 Y55N probably damaging Het
Ddx52 T C 11: 83,952,231 M352T probably damaging Het
Fancd2 G A 6: 113,535,759 probably benign Het
Fat4 A T 3: 38,979,919 E2573D probably benign Het
Fbxl13 T G 5: 21,490,456 D646A probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Grid2ip A G 5: 143,388,909 D928G probably benign Het
Hmgxb3 A G 18: 61,132,213 L1231P probably damaging Het
Ifitm7 A G 16: 13,983,677 F73L probably damaging Het
Ikbkb T A 8: 22,665,903 T583S probably benign Het
Kdm6b G A 11: 69,406,067 A458V possibly damaging Het
Klra2 T C 6: 131,230,217 K143R probably benign Het
Kmt2d A G 15: 98,866,428 S42P possibly damaging Het
Krt78 T A 15: 101,948,593 M360L probably benign Het
Lamb1 A G 12: 31,300,251 N677S probably damaging Het
Lrrc9 G A 12: 72,510,381 V1407I probably benign Het
Myo6 A G 9: 80,260,831 T426A probably benign Het
Net1 T C 13: 3,887,663 Y146C probably damaging Het
Nlrp4d T A 7: 10,388,698 noncoding transcript Het
Notch4 A T 17: 34,568,471 N335I probably damaging Het
Olfr127 A T 17: 37,904,243 E232D probably benign Het
Olfr202 A T 16: 59,284,221 I92K probably damaging Het
Olfr920 A T 9: 38,756,488 T267S probably benign Het
Pax3 A T 1: 78,195,332 H80Q probably damaging Het
Pclo A T 5: 14,679,494 probably benign Het
Pdgfra A G 5: 75,187,906 D869G probably damaging Het
Per2 T C 1: 91,445,610 Y152C probably damaging Het
Pilrb2 T C 5: 137,866,863 D223G probably benign Het
Rag1 T A 2: 101,643,388 I470F probably damaging Het
Rap1gap T C 4: 137,718,006 S333P probably damaging Het
Rundc3b A G 5: 8,492,530 Y430H probably damaging Het
Ryr1 T C 7: 29,094,047 D1332G probably benign Het
Sgo1 G A 17: 53,679,539 A208V possibly damaging Het
Skint5 C T 4: 113,937,581 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc28a3 A T 13: 58,558,637 S597T probably benign Het
Slc4a5 T A 6: 83,271,103 probably benign Het
Slc52a3 A G 2: 152,005,528 probably benign Het
Stac3 A G 10: 127,503,899 D158G probably benign Het
Tdo2 T C 3: 81,963,917 probably benign Het
Usp25 A T 16: 77,115,447 E1018V probably damaging Het
Vmn1r46 T A 6: 89,976,904 F245Y probably damaging Het
Other mutations in Cytip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Cytip APN 2 58148231 missense probably damaging 1.00
IGL01670:Cytip APN 2 58133773 missense probably damaging 1.00
IGL02184:Cytip APN 2 58133738 missense probably damaging 1.00
IGL02468:Cytip APN 2 58134013 missense probably benign 0.08
R0079:Cytip UTSW 2 58159994 missense probably benign 0.37
R0304:Cytip UTSW 2 58148246 missense possibly damaging 0.87
R0612:Cytip UTSW 2 58134190 missense possibly damaging 0.46
R1448:Cytip UTSW 2 58145180 missense probably damaging 1.00
R1822:Cytip UTSW 2 58134146 missense probably benign 0.00
R1954:Cytip UTSW 2 58148253 missense possibly damaging 0.75
R4401:Cytip UTSW 2 58133935 missense probably benign 0.01
R4578:Cytip UTSW 2 58160012 missense possibly damaging 0.95
R5101:Cytip UTSW 2 58147899 missense probably damaging 1.00
R7104:Cytip UTSW 2 58159974 missense probably benign 0.00
Posted On2015-04-16